Evidence map›Paper›PMID 36981010›Full record

ReviewGenes2023

The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of

Andrea Pietrobattista, Luca Della Volpe, Paola Francalanci, Lorenzo Figà Talamanca, Lidia Monti, Francesca Romana Lepri, Maria Sole Basso, Daniela Liccardo, Claudia Della Corte, Antonella Mosca and 5 more

Open access · goldFull text readReviewCase Reports
In one paragraph

Review in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.9field-weighted citation impact, top 21% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. [Zhu-Tokita-Takenouchi-Kim syndrome in a neonate].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors at 2 institutions in 2 countries.

Andrea PietrobattistaHepatogastroenterology, Nutrition, Digestive Endoscopy and Liver Transplant Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.ORCID 0000-0002-4426-0395
Luca Della VolpeHepatogastroenterology, Nutrition, Digestive Endoscopy and Liver Transplant Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Paola FrancalanciPathology Unit, Department of Diagnostic and Laboratory Medicine, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.ORCID 0000-0001-9047-2383
Lorenzo Figà TalamancaDepartment of Radiology, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Lidia MontiDepartment of Radiology, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Francesca Romana LepriLaboratory of Medical Genetics, Translational Cytogenomics Research Unity, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Maria Sole BassoHepatogastroenterology, Nutrition, Digestive Endoscopy and Liver Transplant Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Daniela LiccardoHepatogastroenterology, Nutrition, Digestive Endoscopy and Liver Transplant Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Claudia Della CorteHepatogastroenterology, Nutrition, Digestive Endoscopy and Liver Transplant Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Antonella MoscaHepatogastroenterology, Nutrition, Digestive Endoscopy and Liver Transplant Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Tommaso AlterioHepatogastroenterology, Nutrition, Digestive Endoscopy and Liver Transplant Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Silvio VeraldiHepatogastroenterology, Nutrition, Digestive Endoscopy and Liver Transplant Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.ORCID 0000-0002-2509-9399
Francesco CalleaDepartment of Histopathology, Bugando Medical Centre, Catholic University of Healthy Allied Sciences, Mwanza P.O. Box 1370, Tanzania.
Antonio NovelliLaboratory of Medical Genetics, Translational Cytogenomics Research Unity, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.ORCID 0000-0002-9037-4297
Giuseppe MaggioreHepatogastroenterology, Nutrition, Digestive Endoscopy and Liver Transplant Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.ORCID 0000-0001-8201-2416
Bambino Gesù Children's Hospital · ITCatholic University of Health and Allied Sciences · TZ

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome, an intellectual disability syndrome first described in 2016, is caused by heterozygous loss-of-function variants in

Indexed as

Eye DiseasesIntellectual DisabilityHumansLiverPhenotypeSyndromebrain malformationschronic liver diseasedevelopmental delaySON mutationZTTK syndrome

Identifiers

PMID36981010
PMCPMC10048019
OpenAlexW4327740076

What OpenQuestion holds

Textfull text, public
LicenceCC BY
measurements read6
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.